جستجوی مقالات مرتبط با کلیدواژه « چند شکلی تک نوکلئوتیدی » در نشریات گروه « پزشکی »

The TP53 gene on the short arm of chromosome 17p, which is known as a tumor suppressor gene, encodes the transcription factor p53, and this factor controls cell cycle progression. This study was done to assess the association of TP53 (rs12602273C>G) gene polymorphism with the risk and prognosis of breast cancer in women of northwest of Iran.

In this case-control study, the association of TP53 (rs12602273C>G) gene polymorphism with breast cancer risk was studied in a population, including 100 patients and 100 healthy individuals was investigated by Tetra ARMS-PCR technique. The analysis of the resulting data was done using SPSS version 16 software and JavaStat online statistics package.

In the case group, the frequency of CC, CG, and GG genotypes were 81.52, 16.3, 2.17 percent, respectively and they were 79.34, 17.39, and 3.26 percent for the control group. Similarly, C and G allele frequency in case group was 89.67 and 10.32 percent and those in the control group was 88.04 and 11.95 percent, respectively. Statistical analyzes showed no association between genotypic (P>0.05) and allelic (P>0.05) polymorphism (rs12602273C>G) of TP53 gene with breast cancer. Also, the results showed that the studied polymorphism was not associated with the clinical characteristics of breast cancer patients in the Northwest of Iran (P>0.05).

These research findings suggest that TP53 polymorphism of rs12602273C>G is not related to the risk of breast cancer. The association of the genotypic distribution of this SNP with the clinical characteristics of the patients was insignificant.

The WDR79 gene encodes an antisense RNA which it is essential for stabilization and in-duction of p53 gene. WDR79 gene Single nucleotide polymorphisms are associated with cancer risk. This study was done to assess the association of WDR79 (rs2287497C>T) gene polymorphism with the risk and prognosis of breast cancer in women’s of northwest Iran.

In this case-control study, the association of WDR79 (rs2287497C>T) gene pol-ymorphism with breast cancer susceptibility was studied in a statistical population consisting of 100 pa-tients and 100 healthy controls aged 19-76 years old by Tetra ARMS-PCR. Statistical analysis was per-formed using javastat online statistics package and SPSS V.26.

In the case group, the frequency of CC, TT, and TC genotypes were 76, 21, 3 percent respective-ly and they were 80, 18, and 2 percent for the control group. Also, C and T allele frequency in case group, was 86.5 and 13.5 percent and those in the control group were 89 and 11 percent respectively. Statistical analysis showed non-significant association between genotype and allele frequency and breast cancer. Also our results showed significant association between age and tumor size of patients with breast cancer in Northwestern Iran.

These research findings suggest that WDR79 (rs2287497C>T) polymorphism of rs2287497C/T is not related to the risk of breast cancer. There was significant relationship between this SNP polymorphism and pathological characteristic including age and tumor size.

Genetic factors affect physical performance, exercise response, as well as elite athletic status; Therefore, the aim of the present study was the investigation of the Frequency and association of SNP rs 8111989 in CKMM A/G gene in weightlifting men with non-athlete men.

In this descriptive study, the subjects were include of all (n=30) elite male weightlifters (league champions, members of national team, and the champions of Asian, world and Olympics) from Isfahan province, age: 21.77±7.11; Height: 179.87±6.98 and weight: 96.87±22.73 (mean±standard deviation) Which compared with 44 non-athletes with similar anthropometric (age, height and weight) characteristics. 4 cc saliva samples were collected from each subject and After DNA extraction, the allelic and genotypic prevalence of CKMM A/G gene was determined by PCR via RFLP and electrophoresis. Independent t-test, chi-square and logistic regression were used to analyze the data via the SPSS software version 20. Also the significance level was considered at P<0.05.

The results showed that the prevalence of AG genotype was significantly higher than AA and GG genotypes in weightlifting, non-athlete and total population groups (P <0.05). Also, there was no significant relationship between CKMM A/G genotype and weightlifting status and there was no significant difference between weightlifters and non-athletes (P >0.05).

The results showed that the selected Iranian weightlifter, which belongs to the Caucasian race group, has potential genetics in endurance abilities as well as strength / power, likely.

Breast cancer is the most common cancer in women and the leading cause of cancer death in women worldwide. The ERBB4 gene, a member of the tyrosine kinase family, has been identified as both a tumor suppressor and an oncogene in breast cancer. In this study, the association between rs1972820G>A polymorphism of ERBB4 gene and the risk of breast cancer in northwestern Iran was investigated.

This case-control study was performed on 89 women with breast cancer and 98 healthy women with no family history of cancer. Clinical characteristics of patients included age (less than, greater than or equal to 49 years and unknown), involved side (right, left, both and unknown), type of tumor (ILC, IDC, other types and unknown), tumor grade (I, II or III), tumor size (T1, T2, T3 and unknown) and lymph node involvement (N0, N1, N2, N3 and unknown). Single nucleotide polymorphisms were examined by TETRA-ARMS-PCR technique.

The genotypic distribution of sick and healthy individuals was 66% and 56% for AA genotype, 9% and 6% for GG genotype and 25% and 38% for AG genotype, respectively. The frequency of Allele A was 147 and 140 and the frequency of G Allele was 49 and 38 in patients and controls, respectively (p>0.05).

The findings of this study showed that there is no significant relationship between genotypic and allelic distribution of rs1972820 polymorphism of ERBB4 gene with increased risk of breast cancer and clinical features of patients in northwestern Iran.

Many new studies related to peri-implantation period and maintenance of pregnancy suggest that microRNAs have fundamentally role in regulating critical pathways in early pregnancy loss and implantation failure. This study was performed with aim to evaluate the possible association between has-miR-125 T>C polymorphism and susceptibility to idiopathic recurrent pregnancy loss (RPL).

In this case-control study, 116 females with at least two or more recurrent pregnancy loss and 89 healthy women with a history of two successful pregnancies and without a history of miscarriage were evaluated. DNA molecule was extracted by RGDE method and genotyping was performed by ARMS Tetra method. Data were analyzed by SPSS software (version 22) and Chi-squared test. P<0.05 was considered statistically significant.

The frequency of TT, TC and CC genotypes of rs12976445 polymorphism were 50.86%, 42.25% and 6.89% and in women with RPL and were 58.43%, 39.33% and 2.24% in healthy women. There was no significant relationship between rs12976445 polymorphism and recurrent pregnancy loss (P=0.238).

No significant association was found between rs12976445 polymorphism and RPL.

Recurrent pregnancy loss (RPL) is defined as the repeated occurrence of 2 or more miscarriages before 20th week of gestation. RPL is a multifactorial disorder and genetic defects are considered as one of the major risk factors for recurrent miscarriage. Regarding to the effective role of p73 gene in the process of primary blastocyst division and protection of germ cells, it seems that rs4648551 polymorphism in this p73 gene be associated with the occurrence of spontaneous abortion symptoms. This study was performed with aim to evaluate the frequency of this polymorphism between two groups of Iranian women with idiopathic recurrent miscarriage and healthy women.

This descriptive case-control study was performed in 2015-2016 on 90 patients with history of 2 consecutive idiopathic recurrent spontaneous miscarriages compared to 110 healthy women who had at least two successful pregnancies as controls. DNA was extracted by RGDE procedure and genotyping was performed by Tetra ARMS technique. Data were analyzed by SPSS software (version 22) and Chi-square test. p < 0.05 was considered statistically significant.

In SNP rs4648551(A<G), the frequency of GG, CC and GC alleles in p73 gene in the control group were 11.81%, 69.09% and 19.09%, respectively and in the RPL group were 31.11%, 46.67% and 22.22%, respectively; the difference was statistically significant (p < 0.05). But, the value of allelic difference between the patient and control groups was calculated as 0.066 which was not significant. According to the results, the dominant heredity model was suggested (p < 0.05).

There is significant association between polymorphism rs4648551 and idiopathic recurrent abortions.

Niemann Pick Disease (NPD) is a lipid storage disorder with an autosomal recessive inheritance. The disease occurs mainly due to defects in SMPD1 gene (11p15.4), encoding sphingomyelinase. Disruption of this enzyme leads to the accumulation of sphingomyelin in brain and liver resulting in dysfunction or damage of the brain tissues.
Polymorphic markers such as Single Nucleotide Polymorphisms (SNPs) are used in molecular diagnosis of genetic disease through linkage analysis or homozygosity mapping. The allele frequency and degree of heterozygosity of the markers are usually population dependent. The aim of this study was to investigate the allele frequency and degree hetereozygosity of rs67992843 marker located in the SMPD1 gene region in the Iranian population.
113 unrelated individuals were selected for this study. The marker was genotyped using ARMS PCR with newly designed primers. The results were analyzed by Genepop database and Power Marker software to estimate allelic frequency, heterozygosity rate, presence of Hardy Weinberg Equilibrium (HWE) and polymorphism information content (PIC).
Findings: The data showed 31.42% Minor Allele Frequency (MAF), 39.82% heterozygosity rate and PIC 0.338 for rs67992843 marker in the Iranian population.
Discussion & The results of this study showed that rs67992843 marker could be suggested for linkage analysis and molecular diagnosis of SMPD1 gene in the Iranian population.

Tay-Sachs is a genetic disorder with autosomal recessive inheritance affecting the central nervous system. The disorder mainly results from mutations in the HEXA gene on chromosome 15. Sequencing is used to detect mutations and sequence variations in the HEXA gene, which is expensive and time consuming. Alternatively, linkage analysis of polymorphic markers such as single nucleotide polymorphism (SNP) could be used in heterozygous carrier detection and prenatal diagnosis of the disease in families with an affected individual.
A large number of SNP markers have been introduced for the HEXA gene in the electronic databases. In the present study the genotype and informative situation of rs2288258 genetic marker in HEXA gene region was investigated using Tetra-primer ARMS PCR technique with newly designed primers in Isfahan population. Estimation of allelic frequency, genotype frequency, presence of Hardy Weinberg Equilibrium (HWE) and the amount of polymorphism information content (PIC) was computed by Power Marker software.
Findings: The results indicated 9.12% minor allele frequency (MAF) and PIC=0.1520 for rs2288258 marker in the Isfahan population. Also, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in the mentioned population.
Discussion & The results indicated 9.12% minor allele frequency (MAF) and PIC=0.1520 for rs2288258 marker in the Isfahan population. Also, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in the mentioned population. Totally, according to the results of this study rs2288258 genetic marker could be introduced as an SNP marker for linkage analysis in carrier detection and prenatal diagnosis of HEXA mutations in Isfahan population.

Glutaricaciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH). Direct sequencing is usually used to detect point mutations and other sequence variations in the gene, which is expensive and time-consuming. Alternatively, linkage analysis of polymorphic markers such as single nucleotide polymorphism (SNP) has been used in heterozygous carrier detection and prenatal diagnosis of the disease in families with an affected individual. A large number of SNP markers have been introduced in the GCDH gene region in the electronic databases. In the present study, the characteristics of rs 9384 as an informative marker located in GCDH gene region were investigated.
Genotyping was carried out by ARMS PCR technique in 100 unrelated healthy individuals using newly designed primers. Estimation of allelic frequency and heterozygosity rate was performed using GenePop website and the presence of Hardy Weinberg Equilibrium (HWE) as well as the amount of polymorphism information content (PIC) was computed by Power Marker software for the marker.
The results indicated 0.34% minor allele frequency (MAF), 0.53% heterozygosity rate and 0.3498% PIC for rs9384 marker in the population. Moreover, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in this population.
In total, according to the results of this study, rs9384can be considered as an informative SNP marker for molecular diagnosis of GCDH related GA1 by indirect genetic analysis in the Isfahan population as a representative sample of the Iranian population.

Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1. To date, more than hundred disease- causing mutations have been identified in SMPD1 gene. Due to the large number of mutations in this gene, direct analysis of the mutations is costly and time-consuming. Therefore, indirect linkage analysis using polymorphic markers as an alternative method for molecular diagnosis of the mutations has been recommended. In the present study, allele frequency of rs1542705 genetic marker was analyzed in the Iranian population. The aim was to determine the polymorphic information content (PIC) and the possibility of its application in indirect diagnosing of NPD.
After bioinformatics analysis of the SMPD1 gene region, rs1542705 marker was selected for genotyping in Isfahan population. In order to calculate the allele and genotype frequency of the marker, molecular tests were done on 113 DNA samples of unrelated healthy individuals by using ARMS-PCR technique. Finally, the information related to the genotype of the individuals was statistically analyzed using Powermarker and Genepop software.
The analyses showed that the studied population was in accordance with Hardy-Weinberg equilibrium. Allele frequency of rs1542705 marker for T and C alleles was 71.24% and 28.76%, respectively, and the heterozygosity of the marker was 43.36%. Also, polymorphic information content (PIC) was 0.325.
The results of this study showed that rs1542705 marker could be considered as an informative marker for molecular diagnosis of Niemann- Pick disease using linkage analysis in the studied population.

Recurrent Spontaneous Abortions (RSA) is defined as the repeated occurrence of 2 or more miscarriages before 20th week of gestation. RSA is a multifactorial disorder and genetic defects are considered as one of the major risk factors for recurrent miscarriage. It seems the progesterone receptor gene polymorphisms to be one of the genetic factors involved in the occurrence of recurrent miscarriage. The aim of this study was investigating the relationship between the progesterone receptor gene polymorphisms and RSA.
In this cross-sectional study, a total of 50 women with at least two repeated abortions as patients group and 50 women without abortion history and with at least two successful pregnancy as control group were screened for two functional single nucleotide polymorphisms (SNP), G1031C and G1978T, in progesterone receptor gene using PCR-ARMS technique. Data was analyzed by chi-square and Fisher's exact tests.
In SNP G1031C, the frequencies of GG, CC and GC alleles in the control group were 72%, 6% and 22%, respectively and in the patients were respectively 54%, 16% and 30% (P =0.008) in which the difference was statistically significant. In SNP G1978T, the frequencies of GG, TT and GT alleles in the controlgroup were 76%, 0% and 24%, respectively and in the patients were respectively 70%, 2% and 28% (P =0.510) in which the difference in two groups was not statistically significant.
The results of this study showed that the polymorphism G1031C is significantly higher in the patients with idiopathic recurrent pregnancy loss (RPL) than in the control subjects. However the association between the polymorphism G1978T and RSA is not significant. Therefore, the same study in a larger population may suggest the G1031C as a diagnostic marker for susceptibility to recurrent miscarriage.

Multiple sclerosis (MS) is an acute disease of the central nervous system (CNS) associated with the degradation of myelin sheet around the nerve cells. It is assumed to be a multifactorial disorder that is to say numerous environmental and genetic factors are involved in the disease. Therefore, this study aimed to investigate the association between rs1800624 single nucleotide polymorphism (SNP), located in the promoter region of RAGE gene, and MS in Isfahan population. In this case-control study, tetra-primer ARMS PCR and newly designed primers were utilized in genotyping and determining allele frequency of rs1800624 SNP marker. A total of 300 individuals including 150 healthy and 150 MS patients participated in the study. In order to evaluate the association between genotypes and MS as well as the existence of Hardy-Weinberg equilibrium, SPSS and GENPOP softwares were used, respectively. The study results showed that the frequency of TT, TA and AA genotypes were reported 42.7, 46.6 and 10.7 in the control group and 44, 42 and 14 in the case group. The studied population was in equilibrium in regard with rs1800624 marker. Moreover, no association was detected between rs1800624 marker and MS disease in the Isfahan population (p>0.5). The study findings indicated no association between SNP marker of rs1800624 and MS disease in the Isfahan population (p>0.5).

Leber Congenital Amaurosis (LCA) is the most severe form of inherited retinopathy in humans. LCA is genetically heterogeneous and inherited in an autosomal recessive manner. Aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) gene mutations have been identified to cause the most clinically severe forms of the disease. Direct sequencing is usually used to detect point mutations and other sequence variations in the gene، which is expensive and time consuming. Alternatively، linkage analysis of polymorphic markers such as single nucleotide polymorphism (SNP) has been used in heterozygous carrier detection and prenatal diagnosis of the disease in families with an affected individual. A large number of SNP markers have been introduced in the AIPL1 gene region in the electronic databases. In the present study، the characteristics of rs11658369 as an informative marker located in intron 2 of AIPL1 gene region was investigated. Genotyping was carried out by tetra-primer ARMS PCR technique in 154 unrelated healthy individuals from Isfahan، Iran، using newly designed primers. Estimation of allelic frequency، heterozygosity rate، and presence of Hardy Weinberg Equilibrium (HWE) was performed using GenePop website and the amount of polymorphism information content (PIC) was computed by Power Marker software for the marker. The results indicated 23. 2% minor allele frequency (MAF)، 38. 56% heterozygosity rate and 29. 29% PIC for rs11658369 marker in the Isfahan population. Moreover، analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in the mentioned population. In total، according to the results of this study (MAF>0. 2 and PIC>0. 25)، rs11658369 can be considered as a highly informative SNP marker for molecular diagnosis of AIPL1 related LCA by indirect genetic analysis in the Isfahan population as a representative sample of the Iranian population.

Available genomic data and genome-wide association virtual studies provide the possibility of genetic markers detection known to be associated with complex diseases. Genome Wide Associated Studies (GWAS)، which involve direct testing of genetic polymorphisms in large series of disease cases versus controls، provide a powerful approach to identify lower penetrance alleles that cannot be already detected by genetic linkage studies. By utilizing computer and software systems، it is possible to detect the association of SNPs with diseases without prior knowledge of the function or position. GWAS has been conducted in five of the most common cancer types: breast، prostate، colorectal، lung، and melanoma. GWAS of the breast cancer was performed by simulation of 7 known SNPs on chromosomes 2، 5، 6، 8، 10، 11 and 16 for 10000 women. A simulation study was performed using GWASimulator software and data were analyzed by R software (SNPassoc package). The strongest associations were found for rs2981582 in the FGFR2 gene. SNPs rs889312، rs2180341 and rs3817198 were associated with breast cancer. However، SNPs rs13387042، rs2180341 and rs13281615 on chromosomes 2، 6، and 8 were not associated with the disease، which requires more cases and controls to be stimulated. The results of this research showed that the detection of SNPs associated with the disease was easily possible through employing virtual systems based on real data of Hap Map project using R software.

Hepatitis B virus (HBV) is one of the most important causative agents of chronic hepatic diseases worldwide. Along with viral and immunological components, host genetic background including single nucleotide polymorphisms (SNPs) has a critical role on chronicity or clearance of infection. Programmed cell death 1 is an inhibitory receptor which is expressed on virus-specific T cells and impairs the T cell response in chronic viral infections. In this research the relationship between a single nucleotide polymorphism of exon 5 of the programmed cell death 1 gene (PD1) and susceptibility to chronic hepatitis B infection in an Iranian population has been studied.

In such case-control study, genomic DNA from 160 chronic HBV patients and 150 healthy controls was extracted and genotyping was performed by PCR-RFLP method.

Frequencies of TT, CT and CC genotypes of single nucleotide polymorphism on position 7785 of the exon 5 of PD1 gene were %12.5, %40 and %47.5 in patient group and %10.7, %42.7 and %46.6 in control group, respectively. No statistically significant difference was seen between case and control groups (p value: 0.832).

Although in later studies the relationship between this SNP and susceptibility to some immunological disorders such as rheumatoid arthritis was observed, results of this study suggest that there is no association between PD1 exon 5 C/T single nucleotide polymorphism and susceptibility to chronic hepatitis B in the Iranian population